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Publications by Louise Bowles

A Novel Variant Causing Α2 Antiplasmin Deficiency: Case Report and Experience in a UK Centre

British Journal of Haematology
Hematology
2019English

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Defective Α2 Antiplasmin Cross-Linking and Thrombus Stability in a Case of Acquired Factor XIII Deficiency

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The Vascular Access Questionnaire: A Single Centre UK Experience

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2019English

A Novel SERPINA1 Mutation Causing Serum Alpha1-Antitrypsin Deficiency

PLoS ONE
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2012English

Dyskeratosis Congenita With a Novel Genetic Variant in the DKC1 Gene: A Case Report

BMC Medical Genetics
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2018English

PW02-015 - Eight Years HPFS Experience in a Single UK Centre

Pediatric Rheumatology
ImmunologyPediatricsRheumatologyAllergyPerinatologyChild Health
2013English

Α2-Antiplasmin Is Associated With the Progression of Fibrosis

American Journal of Pathology
Forensic MedicinePathology
2010English

ADA2 Deficiency: Case Report of a New Phenotype and Novel Mutation in Two Sisters

RMD Open
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Novel HSPG2 Mutations Causing Schwartz‑Jampel Syndrome Type 1 in a Chinese Family: A Case Report

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2018English

A Novel Mutation in the TG Gene (G2322S) Causing Congenital Hypothyroidism in a Sudanese Family: A Case Report

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